Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Ass1'

675841

Institutional Source

Beutler Lab

Gene Symbol

Ass1

Ensembl Gene

ENSMUSG00000076441

Gene Name

argininosuccinate synthetase 1

Synonyms

ASS, fold, Ass-1

MMRRC Submission

068681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31360282-31410682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31410407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 406 (Q406R)

Ref Sequence

ENSEMBL: ENSMUSP00000099904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102840]

AlphaFold

P16460

Predicted Effect

probably benign
Transcript: ENSMUST00000102840
AA Change: Q406R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099904
Gene: ENSMUSG00000076441
AA Change: Q406R

Domain	Start	End	E-Value	Type
Pfam:QueC	6	93	2.8e-7	PFAM
Pfam:Arginosuc_synth	8	403	1.9e-177	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,672,571 (GRCm39)	Y606*	probably null	Het
Adgrb1	A	G	15: 74,415,507 (GRCm39)	I696V	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccdc148	T	C	2: 58,719,832 (GRCm39)	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,854,269 (GRCm39)	S451T	probably benign	Het
Cdc123	T	C	2: 5,800,235 (GRCm39)		probably benign	Het
Cep192	T	C	18: 67,967,703 (GRCm39)	V729A	probably benign	Het
Chd6	G	A	2: 160,862,989 (GRCm39)	A444V	probably benign	Het
Chl1	A	G	6: 103,685,822 (GRCm39)	K898E	probably damaging	Het
Chrng	T	C	1: 87,135,219 (GRCm39)	V154A	probably damaging	Het
Cog1	T	G	11: 113,549,324 (GRCm39)	M799R	probably benign	Het
Col4a3	G	A	1: 82,647,483 (GRCm39)		probably null	Het
Coro6	C	A	11: 77,359,917 (GRCm39)	T366K	probably damaging	Het
Cwh43	G	A	5: 73,598,702 (GRCm39)	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,019,878 (GRCm39)	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,702,271 (GRCm39)	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,530,281 (GRCm39)	R229*	probably null	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
En1	G	T	1: 120,530,729 (GRCm39)		probably benign	Het
F3	T	A	3: 121,523,060 (GRCm39)	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,226,940 (GRCm39)	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,093 (GRCm39)	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682 (GRCm39)	S185T	possibly damaging	Het
Hk1	C	T	10: 62,151,294 (GRCm39)	D33N	probably benign	Het
Igfbp1	T	A	11: 7,151,929 (GRCm39)	V244D	probably damaging	Het
Insr	A	T	8: 3,211,358 (GRCm39)	D1160E	probably damaging	Het
Irs1	A	T	1: 82,265,830 (GRCm39)	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,019,808 (GRCm39)	K111E	unknown	Het
Lbx1	T	G	19: 45,223,605 (GRCm39)	D21A	probably benign	Het
Map6	G	T	7: 98,918,192 (GRCm39)	A322S	probably benign	Het
Mat1a	T	C	14: 40,843,788 (GRCm39)	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,930,003 (GRCm39)	I8V	probably benign	Het
Med12l	T	C	3: 58,979,303 (GRCm39)	V276A	probably benign	Het
Mettl17	A	G	14: 52,122,308 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,207,295 (GRCm39)	D183G	possibly damaging	Het
Msmb	T	A	14: 31,872,217 (GRCm39)	C69*	probably null	Het
Mterf1a	A	G	5: 3,941,425 (GRCm39)	S148P	probably damaging	Het
Mybl2	A	G	2: 162,922,653 (GRCm39)	I583V	probably benign	Het
Nbr1	T	A	11: 101,455,520 (GRCm39)	D91E	probably benign	Het
Notch3	A	G	17: 32,341,090 (GRCm39)	Y2221H	probably benign	Het
Npat	C	A	9: 53,481,940 (GRCm39)	T1216N	probably benign	Het
Or14j6	T	C	17: 38,215,115 (GRCm39)	L226P	probably damaging	Het
Or2j3	T	A	17: 38,615,872 (GRCm39)	H160L	probably damaging	Het
Or8k35	C	A	2: 86,424,744 (GRCm39)	V143F	possibly damaging	Het
Pawr	T	A	10: 108,218,603 (GRCm39)	Y170N	probably damaging	Het
Pde12	T	C	14: 26,390,280 (GRCm39)	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,129,476 (GRCm39)	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,374,422 (GRCm39)	L53P	probably damaging	Het
Pknox1	T	C	17: 31,818,520 (GRCm39)	I251T	probably benign	Het
Plcxd1	A	T	5: 110,249,841 (GRCm39)		probably benign	Het
Polr3c	C	T	3: 96,622,517 (GRCm39)		probably benign	Het
Pramel4	G	C	4: 143,795,052 (GRCm39)	G483R	probably damaging	Het
Prdm10	T	C	9: 31,238,693 (GRCm39)	L195P	probably damaging	Het
Prss16	A	T	13: 22,187,175 (GRCm39)	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,263,519 (GRCm39)	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,934,108 (GRCm39)	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,436,135 (GRCm39)	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,620,974 (GRCm39)	C214F	probably damaging	Het
Sirt4	T	C	5: 115,620,704 (GRCm39)	E156G	probably damaging	Het
Spag6	C	T	2: 18,738,928 (GRCm39)	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444 (GRCm39)	H267Q	unknown	Het
Tekt3	T	C	11: 62,961,058 (GRCm39)	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281 (GRCm39)	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,396,372 (GRCm39)	D552G	probably damaging	Het
Ttn	C	A	2: 76,560,664 (GRCm39)	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,789,788 (GRCm39)	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,487,910 (GRCm39)	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,308,530 (GRCm39)	E769G	probably benign	Het
Xrn1	T	A	9: 95,873,246 (GRCm39)	F670Y	probably benign	Het
Ypel1	T	C	16: 16,915,269 (GRCm39)	N113S	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,775,570 (GRCm39)	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,886,139 (GRCm39)	M973L	probably benign	Het
Zfp638	T	C	6: 83,954,035 (GRCm39)	V1380A	possibly damaging	Het

Other mutations in Ass1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Ass1	APN	2	31,366,934 (GRCm39)	missense	probably damaging	1.00
IGL02152:Ass1	APN	2	31,382,336 (GRCm39)	missense	probably damaging	1.00
R0008:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0083:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0084:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0085:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0087:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0183:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0220:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0254:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0302:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0346:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0440:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0472:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0605:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R0644:Ass1	UTSW	2	31,404,831 (GRCm39)	missense	probably damaging	1.00
R1460:Ass1	UTSW	2	31,404,753 (GRCm39)	missense	probably benign	0.37
R1465:Ass1	UTSW	2	31,410,428 (GRCm39)	makesense	probably null
R1465:Ass1	UTSW	2	31,410,428 (GRCm39)	makesense	probably null
R1770:Ass1	UTSW	2	31,376,528 (GRCm39)	missense	probably benign	0.29
R1908:Ass1	UTSW	2	31,383,160 (GRCm39)	nonsense	probably null
R2361:Ass1	UTSW	2	31,410,394 (GRCm39)	missense	probably benign	0.02
R2430:Ass1	UTSW	2	31,391,508 (GRCm39)	missense	probably damaging	1.00
R3816:Ass1	UTSW	2	31,400,117 (GRCm39)	splice site	probably benign
R4614:Ass1	UTSW	2	31,404,795 (GRCm39)	missense	probably damaging	1.00
R4628:Ass1	UTSW	2	31,371,000 (GRCm39)	missense	probably damaging	1.00
R5007:Ass1	UTSW	2	31,391,544 (GRCm39)	missense	possibly damaging	0.90
R5069:Ass1	UTSW	2	31,400,185 (GRCm39)	missense	probably damaging	1.00
R5081:Ass1	UTSW	2	31,378,665 (GRCm39)	critical splice donor site	probably null
R5315:Ass1	UTSW	2	31,382,341 (GRCm39)	missense	probably benign	0.21
R5370:Ass1	UTSW	2	31,408,745 (GRCm39)	missense	possibly damaging	0.56
R6259:Ass1	UTSW	2	31,378,654 (GRCm39)	missense	possibly damaging	0.80
R6541:Ass1	UTSW	2	31,400,245 (GRCm39)	missense	probably damaging	0.99
R6731:Ass1	UTSW	2	31,404,796 (GRCm39)	missense	probably damaging	1.00
R6927:Ass1	UTSW	2	31,404,813 (GRCm39)	missense	probably damaging	1.00
R7811:Ass1	UTSW	2	31,404,753 (GRCm39)	missense	probably benign	0.37
R7995:Ass1	UTSW	2	31,376,552 (GRCm39)	missense	probably benign	0.00
R8504:Ass1	UTSW	2	31,391,544 (GRCm39)	missense	possibly damaging	0.90
R8816:Ass1	UTSW	2	31,383,189 (GRCm39)	critical splice donor site	probably benign
R8930:Ass1	UTSW	2	31,382,387 (GRCm39)	missense	probably damaging	1.00
R8932:Ass1	UTSW	2	31,382,387 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACAAACAATGTTTTCCCCTCTG -3'
(R):5'- CCACTTTTGTAGGCTATAGGGGAC -3'

Sequencing Primer
(F):5'- CCAGGGGAGGCTAGGGC -3'
(R):5'- CCAGGGAACAAAGGCTGTG -3'

Posted On

2021-07-15